Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome.

Abstract

Deletions and mutations in the growth hormone receptor (GHR) gene are the underlying etiology of Laron syndrome (LS) or growth hormone (GH) insensitivity syndrome (GHIS), an autosomal recessive disease. Most patients are distributed in or originate from Mediterranean and Middle-Eastern countries. Sixty mutations have been described so far. We report a novel mutation in the GHR gene in a patient with LS. Genomic DNA sequencing of exon 5 revealed a TT insertion at nucleotide 422 after codon 122. The insertion resulted in a frameshift introducing a premature termination codon that led to a truncated receptor. We present clinical, biochemical and molecular evidence of LS as the result of this homozygous insertion.

• Authors: Isabelle Gennero, Thomas Edouard, Mona Rashad, Eric Bieth, Françoise Conte-Aurio, Françoise Marin, Maithé Tauber, Jean Pierre Salles, Mohamed El Kholy
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 20 Issue 7 Pg. 825-31 (Jul 2007) ISSN: 0334-018X [Print] Germany
• PMID: 17849745 (Publication Type: Case Reports, Journal Article)

Chemical References

• Receptors, Somatotropin
• Insulin-Like Growth Factor I
• Growth Hormone
• DNA

Topics

• Amino Acid Sequence
• Base Sequence
• Child, Preschool
• DNA (chemistry, genetics)
• Electrophoresis, Agar Gel
• Exons
• Female
• Frameshift Mutation
• Genetic Variation
• Growth Hormone (blood)
• Humans
• Insulin-Like Growth Factor I (metabolism)
• Laron Syndrome (blood, genetics, therapy)
• Pedigree
• Polymerase Chain Reaction
• Receptors, Somatotropin (genetics)